This review highlights the diagnostic criteria and neuro-ophthalmic symptoms and signs of the more commonly seen neurocutaneous disorders, including NF1 and NF2, tuberous sclerosis, VHL disease, Sturge-Weber disease, and AT. The distinct neuro-ophthalmic features in each of these hereditary and congenital disorders play an important role in clinical diagnosis.

Salmon patches are present in approximately 44% of all neonates. The lesions tend to fade with time and those on the glabellum, eyelids, nose, and upper lip are rarely detected after the age of 6. We report a 33-year-old Chinese female with a salmon patch on the forehead and glabellum. To our knowledge, the occurrence of a salmon patch on the forehead and glabellum in adulthood has not been rep...

Neural crest cells are first recognized at the lateral margin of the neural placode shortly after gastrulation, although they are not committed to their diverse fates until later. After dorsal closure of the neural tube, neural crest cells separate and migrate throughout the embryo to form many structures of ectodermal origin (eg, dorsal root and autonomic ganglia, peripheral nerve sheaths) and...

PURPOSE Most digital nerve defects can be reconstructed by means of nonvascularized nerve grafts or artificial tubes, for example. When the bed is poor, the defect is long, or there is a concomitant soft-tissue loss; however, a vascularized nerve graft may be a better option. Our purpose is to introduce a method of 1-stage reconstruction of complex neurocutaneous defects in the fingers and to r...

The objective of this pictorial essay is to describe and provide examples of intracranial imaging findings of tuberous sclerosis (TS) extracted from our case series. Tuberous sclerosis is a neurocutaneous syndrome formerly described by Bourneville in 18801 (also known as Bourneville disease). This entity is an inherited autosomal dominant disease caused by mutation or deletion of two genes: one...

A family pedigree with a possible new genetic syndrome characterised by the presence of angiomas, systemic in nature, affecting particularly the skin and the central nervous system, is described. Angiomas of the CNS seem to have a marked tendency to bleed. The condition shows a clearly dominant mode of transmission, four subjects in three generations being affected. Differentiation from other c...